Variant report

Variant	rs6048147
Chromosome Location	chr20:22494325-22494326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11905577	0.90[EUR][1000 genomes]
rs4815115	0.84[ASN][1000 genomes]
rs6036134	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036137	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6036138	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6048146	1.00[ASN][1000 genomes]
rs6048148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048153	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6048155	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6048160	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6048162	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6048163	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6082725	0.94[ASN][1000 genomes]
rs73902850	0.81[ASN][1000 genomes]
rs8117447	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066578	chr20:22472671-22513844	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22490000-22496000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22491800-22494400	Enhancers	Fetal Intestine Large	intestine
3	chr20:22492200-22494400	Enhancers	Fetal Intestine Small	intestine
4	chr20:22492400-22494600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:22492400-22494600	Enhancers	Stomach Mucosa	stomach
6	chr20:22492600-22494600	Enhancers	Pancreas	Pancrea
7	chr20:22493600-22494800	Enhancers	Liver	Liver
8	chr20:22493800-22494800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr20:22494000-22494600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr20:22494200-22498000	Enhancers	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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